VCL missense variants in ExAC

VCL gene summary
VCL variants in DCM

The table below lists the VCL missense variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 75871722 c.2801C>T p.A934V missense 0.01213420●●●●●●
2. 75860740 c.1907A>G p.H636R missense 0.00149155●●●●●●
3. 75867074 c.2521G>C p.D841H missense 0.00099002●●●●●●
4. 75849088 c.1157A>G p.K386R missense 0.00075891●●●●●●
5. 75855425 c.1555A>C p.I519L missense 0.00071702●●●●●●
6. 75830746 c.404T>C p.I135T missense 0.00057810●●●●●●
7. 75860806 c.1973T>C p.V658A missense 0.00046783●●●●●●
8. 75855445 c.1575A>C p.E525D missense 0.00045320●●●●●●
9. 75873961 c.2969C>T p.A990V missense 0.00041266●●●●●●
10. 75849841 c.1237G>A p.A413T missense 0.00023890●●●●●●
11. 75832578 c.590C>T p.T197I missense 0.00023067●●●●●●
12. 75871748 c.2827C>G p.P943A missense 0.00018125●●●●●●
13. 75867025 c.2472C>G p.I824M missense 0.00014835●●●●●●
14. 75849898 c.1294C>G p.L432V missense 0.00014827●●●●●●
15. 75871844 c.2923C>T p.R975W missense 0.00013183●●●●●●
16. 75855477 c.1607C>A p.P536H missense 0.00012361●●●●●●
17. 75849901 c.1297C>T p.R433C missense 0.00009885●●●●●●
18. 75848981 c.1050G>A p.M350I missense 0.00009152●●●●●●
19. 75855591 c.1721C>T p.S574F missense 0.00009094●●●●●●
20. 75864950 c.2273G>A p.R758H missense 0.00009067●●●●●●
21. 75855491 c.1621C>G p.L541V missense 0.00009066●●●●●●
22. 75854181 c.1505G>A p.R502Q missense 0.00008514●●●●●●
23. 75854079 c.1403C>T p.T468M missense 0.00008265●●●●●●
24. 75757997 c.32G>A p.S11N missense 0.00008135●●●●●●
25. 75867084 c.2531C>T p.P844L missense 0.00007427●●●●●●
26. 75849796 c.1192C>T p.P398S missense 0.00007416●●●●●●
27. 75856974 c.1756C>T p.R586W missense 0.00007416●●●●●●
28. 75842215 c.787A>T p.T263S missense 0.00006613●●●●●●
29. 75854066 c.1390A>G p.K464E missense 0.00006611●●●●●●
30. 75834566 c.688C>T p.R230C missense 0.00006598●●●●●●
31. 75863601 c.2046A>T p.L682F missense 0.00006589●●●●●●
32. 75758123 c.158A>G p.N53S missense 0.00006433●●●●●●
33. 75874626 c.3227G>A p.R1076Q missense 0.00006212●●●●●●
34. 75854187 c.1511T>C p.I504T missense 0.00006017●●●●●●
35. 75860784 c.1951G>A p.G651S missense 0.00005887●●●●●●
36. 75849799 c.1195A>C p.N399H missense 0.00005768●●●●●●
37. 75871845 c.2924G>A p.R975Q missense 0.00005768●●●●●●
38. 75860839 c.2006G>T p.R669L missense 0.00005356●●●●●●
39. 75860773 c.1940C>T p.A647V missense 0.00005027●●●●●●
40. 75860761 c.1928C>T p.T643M missense 0.00004994●●●●●●
41. 75758095 c.130G>A p.V44M missense 0.00004500●●●●●●
42. 75854166 c.1490T>C p.I497T missense 0.00004192●●●●●●
43. 75843268 c.1019C>T p.A340V missense 0.00004192●●●●●●
44. 75848971 c.1040C>T p.P347L missense 0.00004169●●●●●●
45. 75854052 c.1376C>G p.A459G missense 0.00004131●●●●●●
46. 75842257 c.829C>A p.L277M missense 0.00004126●●●●●●
47. 75849064 c.1133C>T p.T378I missense 0.00004125●●●●●●
48. 75855476 c.1606C>A p.P536T missense 0.00004120●●●●●●
49. 75832553 c.565G>T p.V189L missense 0.00004119●●●●●●
50. 75863585 c.2030C>T p.S677L missense 0.00004119●●●●●●
51. 75854211 c.1535G>A p.R512H missense 0.00003732●●●●●●
52. 75854210 c.1534C>T p.R512C missense 0.00003697●●●●●●
53. 75848962 c.1031G>C p.G344A missense 0.00003338●●●●●●
54. 75865078 c.2401G>A p.A801T missense 0.00003306●●●●●●
55. 75865055 c.2378C>A p.T793N missense 0.00003299●●●●●●
56. 75871719 c.2798C>T p.A933V missense 0.00003298●●●●●●
57. 75855497 c.1627G>A p.A543T missense 0.00003297●●●●●●
58. 75849802 c.1198G>T p.G400C missense 0.00003296●●●●●●
59. 75871788 c.2867T>G p.M956R missense 0.00003295●●●●●●
60. 75860802 c.1969A>G p.T657A missense 0.00002544●●●●●●
61. 75843264 c.1015C>T p.R339C missense 0.00002508●●●●●●
62. 75834503 c.625A>T p.M209L missense 0.00002506●●●●●●
63. 75843255 c.1006G>A p.A336T missense 0.00002493●●●●●●
64. 75871667 c.2746C>T p.P916S missense 0.00002489●●●●●●
65. 75854109 c.1433A>G p.N478S missense 0.00002483●●●●●●
66. 75842216 c.788C>G p.T263S missense 0.00002480●●●●●●
67. 75854070 c.1394A>C p.Q465P missense 0.00002480●●●●●●
68. 75865066 c.2389A>G p.M797V missense 0.00002478●●●●●●
69. 75857074 c.1856C>T p.A619V missense 0.00002477●●●●●●
70. 75849046 c.1115G>T p.R372L missense 0.00002477●●●●●●
71. 75842251 c.823T>G p.S275A missense 0.00002475●●●●●●
72. 75857062 c.1844C>T p.A615V missense 0.00002475●●●●●●
73. 75830814 c.472G>T p.V158F missense 0.00002474●●●●●●
74. 75867068 c.2515G>A p.E839K missense 0.00002474●●●●●●
75. 75834567 c.689G>A p.R230H missense 0.00002474●●●●●●
76. 75877895 c.3373C>T p.R1125C missense 0.00002473●●●●●●
77. 75871827 c.2906C>T p.A969V missense 0.00002472●●●●●●
78. 75867021 c.2468G>A p.R823Q missense 0.00002472●●●●●●
79. 75868799 c.2630C>T p.P877L missense 0.00002472●●●●●●
80. 75877789 c.3267G>C p.E1089D missense 0.00002472●●●●●●
81. 75843201 c.952C>T p.R318C missense 0.00002472●●●●●●
82. 75849891 c.1287T>A p.D429E missense 0.00002471●●●●●●
83. 75871803 c.2882C>A p.P961Q missense 0.00002471●●●●●●
84. 75758032 c.67C>A p.L23M missense 0.00002375●●●●●●
85. 75834503 c.625A>G p.M209V missense 0.00001671●●●●●●
86. 75854152 c.1476C>G p.H492Q missense 0.00001668●●●●●●
87. 75848977 c.1046C>T p.A349V missense 0.00001665●●●●●●
88. 75834519 c.641C>T p.T214I missense 0.00001662●●●●●●
89. 75865105 c.2428G>A p.D810N missense 0.00001657●●●●●●
90. 75864859 c.2182G>A p.E728K missense 0.00001655●●●●●●
91. 75854100 c.1424C>A p.T475N missense 0.00001654●●●●●●
92. 75854078 c.1402A>G p.T468A missense 0.00001653●●●●●●
93. 75849045 c.1114C>T p.R372C missense 0.00001652●●●●●●
94. 75842234 c.806C>G p.A269G missense 0.00001651●●●●●●
95. 75802910 c.238A>C p.K80Q missense 0.00001651●●●●●●
96. 75842281 c.853C>T p.R285C missense 0.00001651●●●●●●
97. 75867081 c.2528C>T p.P843L missense 0.00001650●●●●●●
98. 75802896 c.224C>T p.P75L missense 0.00001650●●●●●●
99. 75864952 c.2275C>T p.R759W missense 0.00001649●●●●●●
100. 75874043 c.3051G>C p.Q1017H missense 0.00001649●●●●●●
101. 75871814 c.2893C>T p.P965S missense 0.00001648●●●●●●
102. 75871748 c.2827C>A p.P943T missense 0.00001648●●●●●●
103. 75866991 c.2438T>C p.L813P missense 0.00001648●●●●●●
104. 75856975 c.1757G>A p.R586Q missense 0.00001648●●●●●●
105. 75855453 c.1583G>A p.R528H missense 0.00001648●●●●●●
106. 75871784 c.2863T>A p.L955I missense 0.00001648●●●●●●
107. 75871826 c.2905G>A p.A969T missense 0.00001648●●●●●●
108. 75843190 c.941C>A p.A314E missense 0.00001648●●●●●●
109. 75832551 c.563G>A p.R188Q missense 0.00001648●●●●●●
110. 75871724 c.2803G>A p.D935N missense 0.00001648●●●●●●
111. 75871772 c.2851C>T p.P951S missense 0.00001648●●●●●●
112. 75849850 c.1246C>T p.R416W missense 0.00001648●●●●●●
113. 75855483 c.1613G>A p.R538Q missense 0.00001648●●●●●●
114. 75866997 c.2444A>G p.K815R missense 0.00001648●●●●●●
115. 75871728 c.2807C>T p.A936V missense 0.00001648●●●●●●
116. 75849851 c.1247G>A p.R416Q missense 0.00001648●●●●●●
117. 75832499 c.511A>G p.M171V missense 0.00001648●●●●●●
118. 75863657 c.2102A>C p.Q701P missense 0.00001647●●●●●●
119. 75830470 c.282G>A p.M94I missense 0.00001647●●●●●●
120. 75849872 c.1268A>G p.D423G missense 0.00001647●●●●●●
121. 75874625 c.3226C>T p.R1076W missense 0.00001529●●●●●●
122. 75757999 c.34A>G p.I12V missense 0.00001016●●●●●●
123. 75757985 c.20G>T p.R7L missense 0.00001007●●●●●●
124. 75854211 c.1535G>T p.R512L missense 0.00000933●●●●●●
125. 75860839 c.2006G>A p.R669Q missense 0.00000893●●●●●●
126. 75860826 c.1993G>C p.V665L missense 0.00000870●●●●●●
127. 75854180 c.1504C>T p.R502W missense 0.00000851●●●●●●
128. 75860803 c.1970C>T p.T657I missense 0.00000850●●●●●●
129. 75854178 c.1502A>G p.Q501R missense 0.00000849●●●●●●
130. 75864818 c.2141A>G p.D714G missense 0.00000839●●●●●●
131. 75860770 c.1937A>C p.K646T missense 0.00000836●●●●●●
132. 75848961 c.1030G>A p.G344R missense 0.00000835●●●●●●
133. 75848970 c.1039C>T p.P347S missense 0.00000834●●●●●●
134. 75860766 c.1933G>A p.E645K missense 0.00000834●●●●●●
135. 75848976 c.1045G>A p.A349T missense 0.00000833●●●●●●
136. 75848980 c.1049T>C p.M350T missense 0.00000832●●●●●●
137. 75834513 c.635T>C p.F212S missense 0.00000832●●●●●●
138. 75860754 c.1921G>A p.G641S missense 0.00000831●●●●●●
139. 75843256 c.1007C>T p.A336V missense 0.00000831●●●●●●
140. 75860748 c.1915A>C p.K639Q missense 0.00000830●●●●●●
141. 75865109 c.2432C>G p.P811R missense 0.00000829●●●●●●
142. 75860721 c.1888G>A p.A630T missense 0.00000828●●●●●●
143. 75860734 c.1901A>C p.E634A missense 0.00000828●●●●●●
144. 75854111 c.1435C>T p.R479W missense 0.00000828●●●●●●
145. 75802856 c.184G>A p.V62I missense 0.00000827●●●●●●
146. 75857089 c.1871A>T p.E624V missense 0.00000827●●●●●●
147. 75865084 c.2407G>C p.A803P missense 0.00000827●●●●●●
148. 75874106 c.3114G>C p.K1038N missense 0.00000827●●●●●●
149. 75865091 c.2414C>T p.A805V missense 0.00000827●●●●●●
150. 75854103 c.1427A>G p.K476R missense 0.00000827●●●●●●
151. 75855588 c.1718C>G p.A573G missense 0.00000827●●●●●●
152. 75865084 c.2407G>A p.A803T missense 0.00000827●●●●●●
153. 75802857 c.185T>C p.V62A missense 0.00000827●●●●●●
154. 75867092 c.2539C>T p.P847S missense 0.00000826●●●●●●
155. 75868888 c.2719G>T p.D907Y missense 0.00000826●●●●●●
156. 75802869 c.197A>G p.E66G missense 0.00000826●●●●●●
157. 75865073 c.2396T>C p.M799T missense 0.00000826●●●●●●
158. 75868897 c.2728C>G p.R910G missense 0.00000826●●●●●●
159. 75867110 c.2557C>G p.R853G missense 0.00000826●●●●●●
160. 75857081 c.1863C>G p.N621K missense 0.00000826●●●●●●
161. 75865072 c.2395A>G p.M799V missense 0.00000826●●●●●●
162. 75871682 c.2761G>A p.A921T missense 0.00000826●●●●●●
163. 75857083 c.1865G>A p.R622K missense 0.00000826●●●●●●
164. 75874083 c.3091C>T p.R1031W missense 0.00000826●●●●●●
165. 75854031 c.1355G>T p.G452V missense 0.00000826●●●●●●
166. 75842291 c.863G>C p.S288T missense 0.00000826●●●●●●
167. 75857079 c.1861A>G p.N621D missense 0.00000826●●●●●●
168. 75857059 c.1841C>T p.T614M missense 0.00000826●●●●●●
169. 75865070 c.2393T>C p.V798A missense 0.00000826●●●●●●
170. 75864883 c.2206A>G p.K736E missense 0.00000825●●●●●●
171. 75842240 c.812C>T p.A271V missense 0.00000825●●●●●●
172. 75830824 c.482C>T p.T161I missense 0.00000825●●●●●●
173. 75873967 c.2975A>G p.K992R missense 0.00000825●●●●●●
174. 75842255 c.827A>G p.K276R missense 0.00000825●●●●●●
175. 75849052 c.1121T>C p.L374P missense 0.00000825●●●●●●
176. 75874043 c.3051G>T p.Q1017H missense 0.00000825●●●●●●
177. 75842245 c.817A>C p.I273L missense 0.00000825●●●●●●
178. 75865063 c.2386C>T p.P796S missense 0.00000825●●●●●●
179. 75864896 c.2219C>T p.A740V missense 0.00000825●●●●●●
180. 75802891 c.219T>A p.D73E missense 0.00000825●●●●●●
181. 75874059 c.3067G>A p.A1023T missense 0.00000825●●●●●●
182. 75842246 c.818T>C p.I273T missense 0.00000825●●●●●●
183. 75842272 c.844G>T p.G282C missense 0.00000825●●●●●●
184. 75864918 c.2241G>C p.Q747H missense 0.00000825●●●●●●
185. 75855560 c.1690G>T p.G564W missense 0.00000825●●●●●●
186. 75874018 c.3026G>T p.S1009I missense 0.00000825●●●●●●
187. 75865042 c.2365G>A p.E789K missense 0.00000825●●●●●●
188. 75864914 c.2237C>A p.P746H missense 0.00000825●●●●●●
189. 75842237 c.809T>C p.L270S missense 0.00000825●●●●●●
190. 75871707 c.2786C>T p.A929V missense 0.00000825●●●●●●
191. 75868729 c.2560C>A p.L854I missense 0.00000825●●●●●●
192. 75830754 c.412T>G p.C138G missense 0.00000825●●●●●●
193. 75868866 c.2697G>T p.M899I missense 0.00000825●●●●●●
194. 75865048 c.2371A>C p.S791R missense 0.00000825●●●●●●
195. 75849857 c.1253T>C p.I418T missense 0.00000824●●●●●●
196. 75864945 c.2268T>G p.I756M missense 0.00000824●●●●●●
197. 75832515 c.527A>G p.D176G missense 0.00000824●●●●●●
198. 75849916 c.1312A>T p.I438L missense 0.00000824●●●●●●
199. 75871746 c.2825C>A p.P942H missense 0.00000824●●●●●●
200. 75849809 c.1205C>T p.P402L missense 0.00000824●●●●●●
201. 75830797 c.455A>G p.E152G missense 0.00000824●●●●●●
202. 75830460 c.272C>A p.A91E missense 0.00000824●●●●●●
203. 75868745 c.2576C>T p.A859V missense 0.00000824●●●●●●
204. 75856983 c.1765G>A p.E589K missense 0.00000824●●●●●●
205. 75877827 c.3305T>C p.V1102A missense 0.00000824●●●●●●
206. 75871835 c.2914T>A p.S972T missense 0.00000824●●●●●●
207. 75865015 c.2338C>T p.R780C missense 0.00000824●●●●●●
208. 75843124 c.875G>A p.G292E missense 0.00000824●●●●●●
209. 75855490 c.1620T>G p.D540E missense 0.00000824●●●●●●
210. 75863649 c.2094G>A p.M698I missense 0.00000824●●●●●●
211. 75834624 c.746A>G p.Q249R missense 0.00000824●●●●●●
212. 75834579 c.701T>C p.V234A missense 0.00000824●●●●●●
213. 75843196 c.947A>C p.K316T missense 0.00000824●●●●●●
214. 75871796 c.2875A>G p.N959D missense 0.00000824●●●●●●
215. 75849862 c.1258G>A p.E420K missense 0.00000824●●●●●●
216. 75832536 c.548C>T p.T183I missense 0.00000824●●●●●●
217. 75863590 c.2035G>T p.A679S missense 0.00000824●●●●●●
218. 75871721 c.2800G>A p.A934T missense 0.00000824●●●●●●
219. 75849902 c.1298G>A p.R433H missense 0.00000824●●●●●●
220. 75832573 c.585G>A p.M195I missense 0.00000824●●●●●●
221. 75855510 c.1640G>A p.R547Q missense 0.00000824●●●●●●
222. 75843217 c.968G>A p.G323E missense 0.00000824●●●●●●
223. 75855495 c.1625T>C p.L542P missense 0.00000824●●●●●●
224. 75871827 c.2906C>A p.A969E missense 0.00000824●●●●●●
225. 75871754 c.2833A>G p.M945V missense 0.00000824●●●●●●
226. 75849938 c.1334T>C p.L445S missense 0.00000824●●●●●●
227. 75871773 c.2852C>G p.P951R missense 0.00000824●●●●●●
228. 75849829 c.1225C>G p.R409G missense 0.00000824●●●●●●
229. 75832492 c.504G>A p.M168I missense 0.00000824●●●●●●
230. 75868748 c.2579C>T p.P860L missense 0.00000824●●●●●●
231. 75877841 c.3319C>T p.R1107W missense 0.00000824●●●●●●
232. 75866998 c.2445G>C p.K815N missense 0.00000824●●●●●●
233. 75857025 c.1807A>G p.T603A missense 0.00000824●●●●●●
234. 75857011 c.1793T>C p.V598A missense 0.00000824●●●●●●
235. 75873999 c.3007C>T p.R1003W missense 0.00000824●●●●●●
236. 75865030 c.2353G>A p.A785T missense 0.00000824●●●●●●
237. 75855467 c.1597A>G p.M533V missense 0.00000824●●●●●●
238. 75843137 c.888G>T p.E296D missense 0.00000824●●●●●●
239. 75871787 c.2866A>C p.M956L missense 0.00000824●●●●●●
240. 75834582 c.704A>G p.E235G missense 0.00000824●●●●●●
241. 75871796 c.2875A>C p.N959H missense 0.00000824●●●●●●
242. 75871797 c.2876A>G p.N959S missense 0.00000824●●●●●●
243. 75832580 c.592G>T p.V198L missense 0.00000824●●●●●●
244. 75864950 c.2273G>C p.R758P missense 0.00000824●●●●●●
245. 75849905 c.1301C>A p.S434Y missense 0.00000824●●●●●●
246. 75867054 c.2501C>G p.A834G missense 0.00000824●●●●●●
247. 75843198 c.949G>C p.E317Q missense 0.00000824●●●●●●
248. 75871829 c.2908G>C p.A970P missense 0.00000824●●●●●●
249. 75863593 c.2038C>T p.R680C missense 0.00000824●●●●●●
250. 75849950 c.1346G>T p.R449L missense 0.00000824●●●●●●
251. 75868784 c.2615C>T p.P872L missense 0.00000824●●●●●●
252. 75832496 c.508A>G p.K170E missense 0.00000824●●●●●●
253. 75857025 c.1807A>T p.T603S missense 0.00000824●●●●●●
254. 75877862 c.3340A>G p.I1114V missense 0.00000824●●●●●●
255. 75867017 c.2464T>C p.Y822H missense 0.00000824●●●●●●
256. 75857034 c.1816A>G p.I606V missense 0.00000824●●●●●●
257. 75855469 c.1599G>C p.M533I missense 0.00000824●●●●●●
258. 75843172 c.923A>T p.K308I missense 0.00000824●●●●●●
259. 75864982 c.2305A>G p.R769G missense 0.00000824●●●●●●
260. 75871803 c.2882C>T p.P961L missense 0.00000824●●●●●●
261. 75849913 c.1309G>A p.E437K missense 0.00000824●●●●●●
262. 75832580 c.592G>A p.V198M missense 0.00000824●●●●●●
263. 75832553 c.565G>C p.V189L missense 0.00000824●●●●●●
264. 75849799 c.1195A>G p.N399D missense 0.00000824●●●●●●
265. 75871830 c.2909C>G p.A970G missense 0.00000824●●●●●●
266. 75864962 c.2285G>A p.R762Q missense 0.00000824●●●●●●
267. 75855429 c.1559G>T p.R520L missense 0.00000824●●●●●●
268. 75871845 c.2924G>T p.R975L missense 0.00000824●●●●●●
269. 75871776 c.2855A>G p.E952G missense 0.00000824●●●●●●
270. 75834597 c.719A>C p.E240A missense 0.00000824●●●●●●
271. 75849896 c.1292T>G p.I431S missense 0.00000824●●●●●●
272. 75867020 c.2467C>T p.R823W missense 0.00000824●●●●●●
273. 75857025 c.1807A>C p.T603P missense 0.00000824●●●●●●
274. 75855476 c.1606C>T p.P536S missense 0.00000824●●●●●●
275. 75843177 c.928G>A p.G310S missense 0.00000824●●●●●●
276. 75855497 c.1627G>T p.A543S missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.